Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.K5I
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AGL

NM_000642.3:p.K5I

Associated Papers

Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

Pohlenz J et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."